McCombie

BigY3: 720098, BigY2: 720098
MDKA Birth: Scotland

Tree Position

R-P312/S116 > Z290 > L21/S145 > S552 > DF13 > DF21/S192 > FGC3213 > ZZ1 > S3058 > S424 > S426 > S190 > FGC3215 > ZZ23 > ZZ43 > BY44585

Unique Mutations

The mutations unique to this man are summarized in the table below. Those with a '+' or '*' confidence level are considered by FamilyTreeDNA or FullGenomesCorp to be high quality SNPs/INDELs. For completeness, all other mutations of lesser confidence are included as well. These additional mutations may be useful for distinguishing between very closely related men.

Occasionally, some of the mutations listed here will be thought to be shared with other men in which case they might appear in upstream blocks on the tree. When this happens, the 'Blocks' field will indicate what block they appear in. Such a situation might arise with BigY men if the BED data suggests another man may be positive for a SNP, even though it doesn't appear in his VCF data. It might also happen if Chromo2 testing or Sanger sequencing of other men not on the tree show the SNP to be shared.

POS-REF-ALT (hg19) POS-REF-ALT (hg38) Blocks Names Region McDonald BED combBED STRBigY3
720098		BigY2
720098
3366998-A-G 3498957-A-G A*
7102886-A-AT 7234845-A-AT 9×TA*
22304689-A-C 20142803-A-C DYZ19 A*
25900399-G-T 23754252-G-T P1_Y1 A*A*
6113876-C-T 6245835-C-T A*
25869424-A-T 23723277-A-T P1_Y1 A*
4282328-A-T 4414287-A-T BY188806 ++
6890642-G-T 7022601-G-T BY188827 YY++
7192105-G-A 7324064-G-A BY188851 YY++
7973095-A-G 8105054-A-G BY188913 YY++
8717708-G-C 8849667-G-C BY188971 YY++
16379008-G-C 14267128-G-C FT122047 YY+**
18085162-A-G 15973282-A-G BY189282 YY++
21987078-A-G 19825192-A-G FT122693 YY+**
22611881-T-A 20449995-T-A BY189492 YY++
14604-A-C **+
3055939-G-A 3187898-G-A FT120279 +
3220427-T-G 3352386-T-G FT120325 +
3231532-G-A 3363491-G-A FT120328 +
3805373-G-A 3937332-G-A FT120496 +
4070045-A-T 4202004-A-T FT120569 +
5481709-A-G 5613668-A-G FT120996 +
7379978-G-A 7511937-G-A FT121349 Y+
10659876-C-T FT428436 +
10918599-T-C FT436517 +
13801258-G-A 11680552-G-A FT451629 DYZ17 +
10682690-C-CTTCCA *
9764343-AAAGGAAGGAAGG-A 9926734-AAAGGAAGGAAGG-A 10×AAGG*
16305913-A-T 14194033-A-T **
15742056-G-T 13630176-G-T **
26594868-G-A 24448721-G-A E24 P1_g2 **
16354708-G-A 14242828-G-A U179 PF3742 **
13484436-T-G 11328760-T-G **
13453123-TCATTCCATTC-T 11297447-TCATTCCATTC-T 14×CATTC**
13571170-G-T 11415494-G-T **
21055914-C-T 18894028-C-T FGC37990 **
13489221-G-A 11333545-G-A **
58840956-C-T 56749915-G-A **
13484445-C-T 11328769-C-T **
13472120-C-A 11316444-C-A **
7359768-A-T 7491727-A-T 10×AT**
26594833-C-T 24448686-C-T P1_g2 **
18982594-AG-A 16870714-AG-A **
13489519-A-G 11333843-A-G **
26594915-C-G 24448768-C-G P1_g2 **
58979423-C-T 56833276-C-T **
10988541-A-G **
10764604-C-A **
5316966-C-A 5448925-C-A **
10689103-C-T **
10689154-A-C **
10689136-T-G **
10825264-C-G **
13484458-T-A 11328782-T-A **
14379131-C-A 12258427-C-A **
20326038-C-G 18164152-C-G P5_Dst **
56833306-C-A **
10925511-T-TTCCACTGCAC **
10925521-T-A **
16354404-A-T 14242524-A-T **
10825303-T-G **
10952491-A-C **
10952514-C-T **
10952532-T-A **
20101747-C-A 17989867-C-A P5_Dst **
27466745-G-T 25320598-G-T P1_Y2 **
2758842-CAAAA-C 2890801-CAAAA-C 19×A**
11025411-T-C **
28622261-C-A 26476114-C-A **
56833297-A-G **
17716855-C-A 15604975-C-A **
15189805-TATA-T 13077891-TATA-T 5×ATA**
13488853-G-A 11333177-G-A **
10764594-C-T **
10663464-C-A **
10663465-C-T **
10663467-T-A **
10663474-A-T **
10663475-A-C **
10980739-C-T **
4920124-C-A 5052083-C-A **
10625622-C-A **
14933610-C-A 12821675-C-A **
14932044-CAA-C 12820109-CAA-C 11×A**
16679556-C-A 14567676-C-A **
27932628-A-AG 25786481-A-AG P1_Y2 **
21416510-C-A 19254624-C-A **
2759431-C-A 2891390-C-A **
17135660-C-A 15023780-C-A **
19249516-C-A 17137636-C-A **
19172815-T-A 17060935-T-A BY126963 **
10689147-C-G **
28095970-C-A 25949823-C-A P1_Y2 **
7018070-T-C 7150029-T-C **
19059843-C-A 16947963-C-A **
10971589-C-T **
10807297-A-G **
5366987-C-A 5498946-C-A **
14715677-G-T 12603744-G-T **
56833253-T-A **
11016314-C-T **
11014366-C-T **
10807262-C-T **
10807271-T-A **
10807278-A-G **
10987857-T-A **
13871237-C-A 11750531-C-A **
13571028-G-T 11415352-G-T **
13929244-C-A 11808538-C-A **
15725934-C-A 13614054-C-A **
10663386-A-T **
10663395-C-T **
10663404-C-CCAATT **
10663425-C-T **
10663426-A-C **
7135225-C-A 7267184-C-A **
15747420-C-A 13635540-C-A **
16583334-G-T 14471454-G-T **
15202297-C-A 13090383-C-A **
5785675-AAAAG-A 5917634-AAAAG-A **
10999881-T-A **
19004719-C-A 16892839-C-A **
18980601-C-A 16868721-C-A **
9461714-C-A 9624105-C-A **
10662633-C-A **
17158516-C-A 15046636-C-A **
21177311-C-A 19015425-C-A **
22797487-C-A 20635601-C-A **
7832264-ATTAT-A 7964223-ATTAT-A 4×TTAT**
11016315-T-A **
11016335-T-G **
11016348-A-T **
11016358-A-C **
22766717-C-A 20604831-C-A FT353462 **
20569462-A-C 18407576-A-C P5_Dst **
56834854-G-T **
13464455-T-C 11308779-T-C **
8181351-A-G 8313310-A-G **
10971542-G-A **
22147301-C-A 19985415-C-A **
20101644-G-T 17989764-G-T P5_Dst **
19663333-AGT-A 17551453-AGT-A P5_Prx **
13472102-C-G 11316426-C-G **
22244599-C-A 20082713-C-A DYZ19 **
19678820-T-C 17566940-T-C P5_Prx **
8816875-C-A 8948834-C-A Y64550 **
27447466-GT-G 25301319-GT-G P1_Y2 **
6310857-AC-A 6442816-AC-A IR3_Dst **
6751708-C-A 6883667-C-A **
23039636-C-A 20877750-C-A **
56749934-T-C **
2915096-C-A 3047055-C-A **
15171463-G-A 13059549-G-A **
8230640-C-A 8362599-C-A **
17813507-C-A 15701627-C-A **
10761203-A-T **
18806983-C-A 16695103-C-A **
16928958-C-A 14817078-C-A **
28701698-C-A 26555551-C-A **
14079674-C-A 11958968-C-A **
19663343-T-C 17551463-T-C BY211886 P5_Prx **
22360904-G-T 20199018-G-T DYZ19 **
13489757-C-A 11334081-C-A **
2860487-C-A 2992446-C-A **
15689087-C-A 13577207-C-A **
15338813-C-A 13226931-C-A **
10999899-C-T **
10987868-C-T **
11014418-A-C **
6881171-C-A 7013130-C-A **
2651617-A-G 2783576-A-G **
2818144-T-C 2950103-T-C **
2852717-A-G 2984676-A-G **
2852725-A-C 2984684-A-C FT220816 **
2852728-T-C 2984687-T-C **
2859150-C-T 2991109-C-T **
3407727-GA-G 3539686-GA-G **
3440171-A-T 3572130-A-T **
4178445-G-A 4310404-G-A **
4179098-G-T 4311057-G-T **
4473166-A-G 4605125-A-G FTB62063 **
5220448-C-T 5352407-C-T **
5817253-T-A 5949212-T-A **
5824806-C-A 5956765-C-A **
6152354-A-C 6284313-A-C IR3_Dst **
6298104-C-A 6430063-C-A IR3_Dst **
6652553-A-C 6784512-A-C **
6693353-C-T 6825312-C-T **
6771409-A-C 6903368-A-C **
7170717-T-C 7302676-T-C **
7252316-G-A 7384275-G-A **
7319004-C-A 7450963-C-A **
7337400-AT-A 7469359-AT-A **
7363923-T-C 7495882-T-C **
7418400-T-C 7550359-T-C **
7422176-C-A 7554135-C-A **
7519087-G-T 7651046-G-T FT93887 **
7996671-G-A 8128630-G-A **
8035954-C-T 8167913-C-T **
8130494-G-T 8262453-G-T **
8166699-C-T 8298658-C-T **
8181249-G-A 8313208-G-A **
8181252-G-C 8313211-G-C **
8181342-C-G 8313301-C-G **
8181349-C-A 8313308-C-A **
8695854-G-A 8827813-G-A **
8983113-T-C 9145504-T-C **
9047718-G-T 9210109-G-T **
9316712-C-A 9479103-C-A **
9742452-C-T 9904843-C-T IR3_Prx **
9996774-C-A 10159165-C-A **
10775238-T-C **
10952454-C-T **
10971538-A-C **
10971566-C-A **
10971572-C-T **
10971576-C-T **
10987806-C-G **
10987819-CATTCCA-C **
10987834-CA-C **
10987885-A-C **
11014376-C-A **
13223891-G-A 11068215-G-A **
13475079-A-G 11319403-A-G **
13484453-T-A 11328777-T-A **
13484469-G-T 11328793-G-T **
13484479-C-T 11328803-C-T **
13484481-T-C 11328805-T-C **
13526062-C-G 11370386-C-G **
13621747-AG-A 11466071-AG-A **
13632936-C-A 11477260-C-A **
13705531-G-C 11549855-G-C DYZ17 **
13846259-G-T 11725553-G-T DYZ17 **
13887568-C-A 11766862-C-A **
13937288-A-G 11816582-A-G **
14054931-G-A 11934225-G-A **
14219976-A-G 12099270-A-G **
14388536-G-A 12267832-G-A **
14426947-C-A 12306222-C-A **
14447543-A-C 12326816-A-C **
14639091-C-A 12527160-C-A **
14779664-AGAGATGGGGTTTCACCATGTTGGTGAGACTGGTAACTTTTGTACTTTTTTGTG-A 12667734-AGAGATGGGGTTTCACCATGTTGGTGAGACTGGTAACTTTTGTACTTTTTTGTG-A **
14958016-C-A 12846091-C-A **
15107561-C-A 12995648-C-A **
15218451-C-A 13106537-C-A **
15468486-G-A 13356606-G-A **
15910221-C-A 13798341-C-A **
16269381-A-G 14157501-A-G **
16424386-A-G 14312506-A-G **
16478213-A-G 14366333-A-G **
16555042-C-A 14443162-C-A **
16559945-A-AC 14448065-A-AC **
16612601-A-G 14500721-A-G **
16666190-C-T 14554310-C-T FTB63777 **
16945604-G-A 14833724-G-A FGC64894 ****
17020388-C-A 14908508-C-A **
17135631-CA-C 15023751-CA-C **
17185077-C-A 15073197-C-A **
17196302-C-T 15084422-C-T **
17380698-G-A 15268818-G-A **
17479216-C-A 15367336-C-A **
17490259-G-T 15378379-G-T **
18022498-C-A 15910618-C-A **
18115751-C-A 16003871-C-A **
18248165-C-A 16136285-C-A **
18296557-C-A 16184677-C-A P6_Prx **
18368632-A-ATT 16256752-A-ATT P6_Prx **
18381298-C-A 16269418-C-A P6_Prx **
18703262-AG-A 16591382-AG-A **
18739709-A-G 16627829-A-G **
18931723-C-A 16819843-C-A **
19213182-G-A 17101302-G-A **
19673742-C-A 17561862-C-A P5_Prx **
19673812-T-G 17561932-T-G P5_Prx **
19817123-C-A 17705243-C-A P5_Prx **
19868148-T-A 17756268-T-A P5_Prx **
21092189-TTC-T 18930303-TTC-T **
21111595-A-G 18949709-A-G **
21172178-G-A 19010292-G-A 8×A**
21265296-C-A 19103410-C-A **
21528315-C-A 19366429-C-A **
21541135-T-A 19379249-T-A **
21934612-TG-T 19772726-TG-T **
22125770-G-T 19963884-G-T **
22244544-C-T 20082658-C-T DYZ19 **
22244547-C-G 20082661-C-G DYZ19 **
22244553-GA-G 20082667-GA-G DYZ19 **
22244575-C-A 20082689-C-A DYZ19 **
22244603-G-T 20082717-G-T DYZ19 **
22244635-C-T 20082749-C-T DYZ19 **
22253003-C-A 20091117-C-A DYZ19 **
22526117-C-A 20364231-C-A **
22834017-CT-C 20672131-CT-C **
22874651-C-A 20712765-C-A **
22899846-T-C 20737960-T-C **
23152642-C-A 20990756-C-A **
23464753-A-G 21302867-A-G **
23786328-C-A 21624442-C-A **
23848019-C-A 21686133-C-A **
23875801-C-A 21713915-C-A **
24415757-TA-T 22269610-TA-T **
24875316-G-C 22729169-G-C g1 **
25849703-A-AG 23703556-A-AG P1_Y1 **
25887578-G-T 23741431-G-T P1_Y1 **
26262489-T-C 24116342-T-C P1_Y1 **
26275863-A-G 24129716-A-G P1_Y1 **
26922007-A-G 24775860-A-G P1_r3 **
27641580-G-A 25495433-G-A P1_Y2 **
27823609-C-T 25677462-C-T P1_Y2 **
28464096-C-A 26317949-C-A **
28500791-A-G 26354644-A-G **
28614623-G-A 26468476-G-A **
28635526-A-C 26489379-A-C **
28778849-CTTCT-C 26632702-CTTCT-C **
56822704-G-T **
56830282-C-A **
56832694-C-CAATCA **
56833255-C-G **
56836955-C-A **
6124050-A-T 6256009-A-T **
6471608-G-A 6603567-G-A **
13639877-G-C 11484201-G-C **
15630230-TG-T 13518350-TG-T **
15795173-C-G 13683293-C-G **
13489695-C-A 11334019-C-A ***
17841328-GACAC-G 15729448-GACAC-G 22×AC***
2844487-G-GA 2976446-G-GA BY13648 8×A***
13455820-A-G 11300144-A-G BY50746 ***
19124920-CTTTT-C 17013040-CTTTT-C 15×T***
22253610-G-T 20091724-G-T Z18324 DYZ19 ******
14394872-GT-G 12274168-GT-G 10×T***
13454877-CATTCT-C 11299201-CATTCT-C ******
2844461-C-CT 2976420-C-CT 9×T***
2704138-AATT-A 2836097-AATT-A 6×ATT***
15212141-C-A 13100227-C-A ***
10837808-A-T FT90747 ***
13936949-C-A 11816243-C-A ***
13460295-A-G 11304619-A-G ***
13489694-A-C 11334018-A-C ***
18195154-A-ATT 16083274-A-ATT 29×T***
17141705-G-T 15029825-G-T ***
9127506-CTTTT-C 9289897-CTTTT-C 22×T***
8280915-C-A 8412874-C-A ***
23833401-CAA-C 21671515-CAA-C 11×A***
16519316-CAA-C,CAAA 14407436-CAA-C,CAAA 15×A***
27699941-C-T 25553794-C-T P1_Y2 ***
10958348-C-G ***
21732663-C-CTT 19570777-C-CTT 14×T***
56831990-C-A ***
9702926-G-T 9865317-G-T IR3_Prx ***
14356890-CTTT-C,CTTTT 12236185-CTTT-C,CTTTT 17×T***
23005328-C-A 20843442-C-A ***
6780870-CAAAAAAAA-C 6912829-CAAAAAAAA-C 26×A***
13694631-G-A 11538955-G-A DYZ17 ***
2842357-G-T 2974316-G-T ***
16333537-C-A 14221657-C-A ***
21713438-TAAA-T,TAA 19551552-TAAA-T,TAA 16×A***
4016738-C-A 4148697-C-A ***
10958340-A-T ***
3592995-C-T 3724954-C-T ***
4016860-C-A 4148819-C-A ***
6734642-T-C 6866601-T-C FTB35180 ***
6881710-C-T 7013669-C-T ***
6930359-C-A 7062318-C-A ***
7354552-C-A 7486511-C-A ***
7725584-C-A 7857543-C-A ***
8084118-T-C 8216077-T-C ***
8162242-A-G 8294201-A-G ***
9941645-A-G 10104036-A-G ***
10958333-C-CTGTTCTATTG ***
13450055-C-A 11294379-C-A 4×CCATT***
13464370-A-G 11308694-A-G ***
13464383-C-G 11308707-C-G ***
13464397-G-A 11308721-G-A ***
13464409-A-C 11308733-A-C ***
13823368-G-A 11702662-G-A BY90615 DYZ17 ***
13842667-G-GAACCC 11721961-G-GAACCC DYZ17 ***
13848133-G-T 11727427-G-T DYZ17 ***
14093880-A-AT 11973174-A-AT 9×T***
14388233-C-A 12267529-C-A ***
15160880-A-G 13048966-A-G ***
15472094-T-C 13360214-T-C ***
15936143-C-A 13824263-C-A ***
16628243-C-A 14516363-C-A ***
16777381-A-G 14665501-A-G ***
17047880-A-ATT 14936000-A-ATT 16×T***
17437061-C-A 15325181-C-A ***
19261128-CTTTTT-C,CTTTT 17149248-CTTTTT-C,CTTTT 21×T***
21299012-T-C 19137126-T-C ***
21299024-A-G 19137138-A-G ***
21992488-C-A 19830602-C-A ***
23013209-C-A 20851323-C-A ***
23119069-A-G 20957183-A-G ***
23312664-C-A 21150778-C-A ***
23380257-C-A 21218371-C-A ***
28530365-C-A 26384218-C-A ***
56831989-T-C ***
56831992-G-C,T ***
56832013-C-CA ***
4427389-C-A 4559348-C-A ***
9764355-G-A 9926746-G-A ***
15963228-C-T 13851348-C-T ***
16263230-T-A 14151350-T-A ***

In the table above, the meaning of the confidence field depends on whether the data comes from an FTDNA kit or an FGC kit. For FTDNA kits, + implies a "PASS" result with just one possible variant, * indicates a "PASS" but with multiple variants, ** indicates "REJECTED" with just a single variant, and *** indicates "REJECTED" with multiple possible variants. 'A*' are heterozygous variants not called by FTDNA, but still pulled from the VCF file. For FGC kits, + indicates over 99% likely genuine (95% for INDELs); * over 95% likely genuine (90% for INDELs); ** about 40% likely genuine; *** about 10% likely genuine. Manual entries read directly from a BAM file will be either + indicating positive, or * indicating that the data show a mixture of possible variants.

For the FTDNA kits, the BED data is encoded in the background color of the cells. Those cells with a white background have coverage, those with a grey background indicate no coverage in the BED file, and those with a pink background indicate the mutation is on the edge of a coverage region. These pink regions often indicate that the individual may be positive for a SNP even if there is no corresponding entry in the vcf file.

The combBED column indicates whether or not the mutation is a SNP and falls in the combBED region defined in Defining a New Rate Constant for Y-Chromosome SNPs based on Full Sequencing Data by Dmitry Adamov, Vladimir Guryanov, Sergey Karzhavin, Vladimir Tagankin, Vadim Urasin.

The McDonald BED column indicates whether or not the mutation is a SNP and falls in the BED region used by Dr. Iain McDonald in the age analysis he does for R-U106 men.